The Turkish Journal of Pediatrics 2016 , Vol 58 , Num 3
Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 gene
Bahar Göktürk 1 ,İsmail Reisli 2 ,Ümran Çalışkan 3 ,Carmen Oleaga-Quintas 4-5 ,Caroline Deswarte 4-5 ,Tuba Turul-Özgür 6 ,Durmuş Burgucu 7 ,Mélanie Migaud 4-5 ,Jean-Laurent Casanova 4-5-8-9-10 ,Capucine Picard 4-5-8-9-11 ,Jacinta Bustamante 4-5-9-11
1 Division of Pediatric Allergy and Immunology, Department of Pediatrics, Baskent University Faculty of Medicine, Ankara, Turkey
2 Division of Pediatric Allergy and Immunology, Department of Pediatrics, Necmettin Erbakan University Meram Faculty of Medicine, Konya, Turkey
3 Division of Pediatric Hematology, Necmettin Erbakan University Meram Faculty of Medicine, Konya, Turkey
4 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, INSERM-U1163
5 Paris Descartes University, Imagine Institute, Paris, France
6 Division of Pediatric Allergy and Immunology, Department of Pediatrics, Akdeniz University Faculty of Medicine, Antalya, Turkey
7 Antalya Technopark Babylife Cord Blood Bank and Stem Cell Research Center, Antalya, Turkey
8 Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Paris, France
9 St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA
10 Howard Hughes Medical Institute, New York, USA
11 Center for the Study of Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris AP-HP, Necker-Enfants Malades Hospital, Paris, France
Clinical disease caused by weakly pathogenic mycobacterial species, which is known as Mendelian susceptibility to mycobacterial disease (MSMD), is a rare entity. IFN-γ and IL-17 production are defective due to insufficient response to IL-2 and IL-23 in IL-12Rβ1 deficiency; so this also causes tendency to intracellular microorganisms and candidal diseases. Here, we present a patient who suffers IL-12Rβ1 deficiency caused by a novel bi-allelic mutation with recurrent salmonellosis, mycobacterial, fungal infections and remained asymptomatic during 13 months of follow-up after hIFN-γ treatment. In addition she had hemolytic anemia and midline defects like cleft lip and palate which have not been reported in a patient with MSMD in the literature prior to this case report. In conclusion, diagnosis of MSMD should be kept in mind in patients with recurrent salmonellosis, mycobacterial and fungal infections especially in countries with a high consanguinity rate. Keywords : autoimmunity, IL-12Rβ1 deficiency, midline defect, salmonellosis
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